GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Monogenic disorders list    

List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.

View information by Inheritance Mode


S.No.  Genetic Disorders (Gentigs update)
Modes of inheritance
Category Gene symbol  Links Indian
context
11 Acute fatty liver of pregnancy  (Nov 30, 2023)
Autosomal recessive
Metabolic disorders HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
PubMed Reports
12 Acute febrile neutrophilic dermatosis  (Dec 29, 2023)
Autosomal dominant
Skin disorders MEFV MEFV innate immunity regulator, pyrin
PubMed Reports
13 Adams-Oliver syndrome 1  (Feb 01, 2024)
Autosomal dominant
Bone disorders ARHGAP31 Rho GTPase activating protein 31
PubMed Reports
14 Adenine phosphoribosyltransferase deficiency  (Feb 01, 2024)
Autosomal recessive
Metabolic disorders APRT adenine phosphoribosyltransferase
PubMed Reports
15 Adenylosuccinate lyase deficiency  (Feb 01, 2024)
Autosomal recessive
Metabolic disorders ADSL adenylosuccinate lyase
PubMed Reports
16 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder  (Nov 30, 2023)
Autosomal dominant
Neurodevelopmental disorders ADNP activity dependent neuroprotector homeobox
PubMed Reports
17 Adrenocortical carcinoma  (Nov 30, 2023)
Cancer disorders TP53 tumor protein p53
PubMed Reports
18 Adrenoleukodystrophy  (Mar 09, 2023)
X-linked dominant
Metabolic disorders ABCD1 ATP binding cassette subfamily D member 1
PubMed Reports
19 Adult polyglucosan body disease  (Feb 01, 2024)
Autosomal recessive
Metabolic disorders GBE1 1,4-alpha-glucan branching enzyme 1
PubMed Reports
20 ADULT syndrome  (Nov 30, 2023)
Autosomal dominant
Skin disorders TP63 tumor protein p63
PubMed Reports